Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20347 | 61264;61265;61266 | chr2:178590686;178590685;178590684 | chr2:179455413;179455412;179455411 |
| N2AB | 18706 | 56341;56342;56343 | chr2:178590686;178590685;178590684 | chr2:179455413;179455412;179455411 |
| N2A | 17779 | 53560;53561;53562 | chr2:178590686;178590685;178590684 | chr2:179455413;179455412;179455411 |
| N2B | 11282 | 34069;34070;34071 | chr2:178590686;178590685;178590684 | chr2:179455413;179455412;179455411 |
| Novex-1 | 11407 | 34444;34445;34446 | chr2:178590686;178590685;178590684 | chr2:179455413;179455412;179455411 |
| Novex-2 | 11474 | 34645;34646;34647 | chr2:178590686;178590685;178590684 | chr2:179455413;179455412;179455411 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs1372719064  |
None | 1.0 | D | 0.866 | 0.743 | 0.875684388022 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/D | rs1372719064 |
None | 1.0 | D | 0.866 | 0.743 | 0.875684388022 | gnomAD-4.0.0 | 6.81949E-06 | None | None | None | None | N | None | 4.00759E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78289E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7966 | likely_pathogenic | 0.8245 | pathogenic | -1.526 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/D | 0.9977 | likely_pathogenic | 0.9974 | pathogenic | -2.77 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.655686116 | None | None | N |
| A/E | 0.9959 | likely_pathogenic | 0.995 | pathogenic | -2.506 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/F | 0.9945 | likely_pathogenic | 0.9957 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| A/G | 0.5451 | ambiguous | 0.5584 | ambiguous | -2.066 | Highly Destabilizing | 1.0 | D | 0.603 | neutral | D | 0.608799575 | None | None | N |
| A/H | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -2.297 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/I | 0.9822 | likely_pathogenic | 0.985 | pathogenic | -0.102 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/K | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/L | 0.9379 | likely_pathogenic | 0.9436 | pathogenic | -0.102 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/M | 0.9725 | likely_pathogenic | 0.9737 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/N | 0.9954 | likely_pathogenic | 0.9948 | pathogenic | -1.843 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| A/P | 0.9873 | likely_pathogenic | 0.9874 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.629542592 | None | None | N |
| A/Q | 0.9897 | likely_pathogenic | 0.9888 | pathogenic | -1.526 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/R | 0.9937 | likely_pathogenic | 0.9931 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/S | 0.3543 | ambiguous | 0.3094 | benign | -2.253 | Highly Destabilizing | 1.0 | D | 0.59 | neutral | D | 0.575226782 | None | None | N |
| A/T | 0.8066 | likely_pathogenic | 0.7673 | pathogenic | -1.857 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.617298586 | None | None | N |
| A/V | 0.8807 | likely_pathogenic | 0.8929 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.62853357 | None | None | N |
| A/W | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/Y | 0.9975 | likely_pathogenic | 0.998 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.